ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826472840
Gene: SMS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
441113
ClinVar RCV Id:
RCV000509103
RCV000522772
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001245352.1:p.Asp169Val
CA412568970
NM_001258423.2:c.506A>T